ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13146C>T (p.Thr4382=)

dbSNP: rs2542143048
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002611843 SCV003508951 likely benign Spastic paraplegia 2024-03-09 criteria provided, single submitter clinical testing

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